Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family

OBJECTIVE: Primary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty four genes associated with this disease have bee...

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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Rasool, Mahmood, Abdulkareem, Angham Abdulrahman, Chaudhary, Adeel G., Zaidi, Syed Kashif, Al-Qahtani, Mohammad H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572970/
https://www.ncbi.nlm.nih.gov/pubmed/31258591
http://dx.doi.org/10.12669/pjms.35.3.36

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572970/
https://www.ncbi.nlm.nih.gov/pubmed/31258591
http://dx.doi.org/10.12669/pjms.35.3.36

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